Index

A Becker nevus and Becker nevus syndrome , Acantholysis, transient superfi cial , 158–159 14, 15, 86, 88–90 , 19, 20, 141–142, 145, 146 BFH. See Basaloid follicular hamartoma (BFH) Acne nevus of Munro , 91 Binary genodermatoses , 23, 115–118 Acne vulgaris , 26, 200–201, 203 aplasia cutis congenita Acrokeratoelastoidosis, 146 and nevus psiloliparus , 116, 117 AHO. See Albright’s hereditary osteodystrophy (AHO) and nevus sebaceous , 116 Aicardi syndrome , 188–189 nevus sebaceus and melorheostosis , 116 AKT1 mutation , 79, 83, 137 phacomatosis pigmentokeratotica , 115–116 -deafness syndrome, X-linked , 189–191 phacomatosis pigmentovascularis , 116–118 Albinism, X-linked oculocutaneous, 54 Birt-Hogg-Dubé syndrome. See Hornstein-Knickenberg Albright’s hereditary osteodystrophy (AHO) , 19, 20, syndrome 151–154 Blaschkitis , 49, 195, 205, 208 Allelic didymosis , 23–24, 109–111 Blaschko, Alfred , 9, 45, 47–51 capillary didymosis , 109–111 Blaschko dermatitis , 195 cutis tricolor , 110–111 Blaschko’s lines , 45–59, 63–64, 74 Darier disease , 111, 112 analogous patterns in other organs , 53–58 epidermolytic ichthyosis of Brocq , 111 in animals , 51, 54–56 Amelogenesis imperfecta , 53 atypical lines , 63–64 Anemic halo. See Rhodoid nevus brindle trait , 51, 54, 55 circumscriptum , 96 in broad bands , 46, 52–53 serpiginosum , 96–97 in chimeric mice , 51, 54 Angora hair nevus , 15, 86, 88–89 dwarf zebu, brindle trait , 54, 55 Apert syndrome , 91 embryonic cells , 49, 50 Archetypical patterns , 45–59 in epidermal nevi , 50, 52 Arteriovenous fi stulas , 20, 138, 156 on head and neck , 47, 50 Art nouveau , 57 intraoral lesions , 52 Atopic dermatitis , 26, 194, 195, 197–199 murine brain , 54, 56 ATP7A gene , 188 in narrow bands , 52 ATP2C1 mutation. See Hailey-Hailey disease nevus lines , 45, 47, 49, 50 Atrophoderma, linear. See Linear atrophoderma scalp involvement , 52, 53 Atypical Blaschko lines , 63–64 Bloom syndrome , 22, 24 Autosomal dominant skin disorders , 121–160, 177 Blue rubber bleb angiomatosis , 19, 20, 127–128, 194 Blue rubber bleb nevus. See Non-nevi Bone disorders , 146–157 B Brachmann-de Lange syndrome , 155–157 Back mutation , 24, 178 Brindle trait , 26, 28, 51, 54, 55 Bannayan-Riley-Ruvalcaba variant. See PTEN Bullous pemphigoid , 26, 205 hamartoma syndrome Buschke-Ollendorff syndrome , 19, 20, 149–150 Basal cell carcinioma , 19, 115, 135, 136, 194, 221 hereditary multiple nonsyndromic , 19, 136 infundibulocystic (see Basaloid follicular hamartoma) C Basal cell nevus. See Non-nevi Capillary didymosis , 109–111 Basaloid follicular hamartoma (BFH) , Capillary malformation 19, 123, 192, 193 ambiguous name , 157 Bazex-Dupré-Christol syndrome , 30 capillary nevi , 92–97

R. Happle, Mosaicism in Human Skin, 223 DOI 10.1007/978-3-642-38765-4, © Springer-Verlag Berlin Heidelberg 2014 224 Index

Salmon patch (see Non-nevi) D umbrella term , 92 Darier disease , 16, 19, 20, 24, 85, 111–112, 139–140, Capillary malformation-arteriovenous malformation. 177, 196 See Rhodoid nevus syndrome Deletion, intragenic , 15 Capillary nevi Delleman syndrome , 14, 15 angiokeratoma circumscriptum , 96 Demethylation , 26 angioma serpiginosum , 96–97 Dermatomal pattern , 49, 57, 209 cutis marmorata telangiectatica congenita , 95 Dermatomyositis , 26, 195, 203–205 livedo reticularis congenita , 95–96 Desmoplakin mutation , 160 , 97 Dichotomous types of mosaicism , 18 nevus fl ammeus , 92–93 Dichromasia , 54 nevus roseus , 93–94 Didymosis (twin spotting) nevus vascularis mixtus , 97 defi nition , 21–22 rhodoid nevus , 94–95 didymotic skin disorders , 109–113 Carcinoma, squamous cell , 221 Dowling-Degos disease , 141 Castori syndrome , 15, 86 Drosophila , 7–9, 23 Cataract, sectorial , 54 Drug eruption Cellular blue nevus , 72 common , 26, 208 Checkerboard pattern, 46, 56–57 fi xed , 26, 208 Cherry , 26, 210–211 lichenoid , 209 CHILD nevus , 57, 78, 79, 83–84 DSAP. See Porokeratosis CHILD syndrome , 25, 39–41, 46, 47, 58, 83 Dwarf zebu , 54, 55 Chimerism , 10–11, 54, 57 Chondrodysplasia punctata, X-linked dominant. autosomal dominant type , 19, 99 See Conradi-Hünermann-Happle syndrome X-linked type , 142, 187–188 Christ-Siemens-Touraine syndrome , 187 Dysplastic nevi , 70 Chromosomal loss or gain , 24 CK syndrome , 40, 41 CLOVES syndrome , 15, 78, 80–81 E Coat patterns in mice , 29 EBP mutation , 39, 185 Cobblestone nevus , 21, 147 Eccrine nevus of the Castori type. See Epidermal nevi Cobb syndrome , 93 Eccrine poroma , 125 COL7A1 mutation , 159, 160 Ectodermal dysplasia of Zonana , 27, 39–40, 184 Collagen nevus Ehlers-Danlos syndromes , 16, 19, 20, 99, 150–151 in Ehlers-Danlos syndrome III , 150–151 Elastin-rich nevus , 99 linear , 98–99 Elastoma, juvenile , 20, 99, 149 Collagenoma , 20 Elephantiasis neuromatosa , 20 Collagen type XVII , 24 Enamel defects, linear. See Focal dermal hypoplasia Columnar mosaicism of the murine brain , 54, 56 Encephalocraniocutaneous lipomatosis , 15, 99, 116 Comedones, linear epidermolytic. See Epidermal nevi Epidermal nevi, keratinocytic types Compound heterozygosity , 22 CHILD nevus , 79, 83–84 Connective tissue/bone disorders , 146–157 eccrine nevus of the Castori type , 90–91 Connective tissue nevi, 20, 98–99 epidermolytic comedones, linear , 88, 89 Conradi-Hünermann-Happle syndrome , 39, 40, 50, 54, epidermolytic epidermal nevus , 83 185–186 hard, verrucous type , 80–81 Cornelia de Lange syndrome , 155–157 infl ammatory linear verrucous epidermal nevus Costello syndrome , 145–146 (ILVEN), 26, 83–84 Cowden nevus, linear. See Linear PTEN nevus linear PTEN nevus , 79, 81–82 Cowden variant. See PTEN hamartoma syndrome nevus corniculatus , 84, 85 Crossing-over, postzygotic , 24 nevus epidermicus verrucosus (see NEVADA Cutis marmorata telangiectatica congenita , 15, 95 syndrome) Cutis tricolor nevus kerinokeratoticus , 84, 85 Blaschko-linear type , 24, 111 nevus marginatus , 87–88 parvimaculata , 24, 111 Proteus type , 81–83 Ruggieri-Happle type , 24, 46, 58, 59, SASKIA nevus , 81 110–111 seborrheic keratoses , 78, 80 CXORF5 gene , 186 Epidermal nevi, organoid types Cylindromatosis , 125–126 angora hair nevus , 88, 89 Cytogenetic abnormalities, lethal , 14 Becker nevus and Becker nevus syndrome , 86, 88–90 Index 225

eccrine nevus, Castori type , 90, 91 Genomic mosaicism , 13–26 epidermal nevus syndromes , 86, 91 Giant melanocytic nevus , 46, 57–58 linear epidermolytic comedones , 88–89 Gilmore’s hypothesis , 51 Munro’s acne nevus , 91 GJB2 mutation , 86, 90, 142 nevus comedonicus , 15, 87–88 Glomangioma nevus corniculatus , 84–85 congenital patch-like , 20 nevus kerinokeratoticus , 84, 85 congenital plaque-like , 126 nevus sebaceous , 87–88 giant , 20, 126 nevus trichilemmocysticus , 15, 91 Glomangiomatosis , 19–21, 126–127 porokeratotic eccrine nevus , 89–90 Glomulin mutation. See Glomangiomatosis Schauder syndrome , 88, 89 Glomuvenous malformation. See Glomangioma Epidermal nevus syndromes , 78–84, 86, 91 GNAQ mutation , 23, 113 Epidermolysis bullosa GNAS mutations , 75, 151, 153 Dowling-Meara type , 177 Goltz syndrome. See Focal dermal hypoplasia neonatal miliaria rubra-like lesions , 159 Gonadal mosaicism , 16, 17 non-Herlitz junctional type , 177, 179 Gorlin syndrome , 19, 135–136 recessive dystrophic type , 177, 180 Graft-versus -host disease , 26, 206 self-limited dystrophic type , 158–159 Granuloma annulare , 26, 207 simplex superfi cialis , 160 Grouped congenital hypertrophy of the retinal pigment Epidermolytic comedones. See Epidermal nevi epithelium (CHRPE), 54, 55 Epidermolytic epidermal nevus. See Epidermal nevi Grover disease , 196 Epidermolytic ichthyosis of Brocq , 19, 20, 24, 83, 85, 88, 111, 139, 177 Epigenetic mosaicism , 26–31, 50 H Epimutation , 26 Hailey-Hailey disease , 19, 20, 85, 139–140 Epitopes of skin , 25 Halo, anemic. See Rhodoid nevus Erythema multiforme , 26, 208 Happle-Tinschert syndrome , 123, 192–194 Escape from X inactivation , 30 Hemangiomatosis, unilateral. See Blue rubber bleb Exanthem of childhood, lateralized , 26, 208–210 angiomatosis Hemihyperplasia-multiple lipomata syndrome , 128, 193 Hemizygous cell clone , 16 F Hereditary hemorrhagic telangiectasia , 19, 156, 158 Fatty tissue nevi , 99–100 Heterozygosity , 221 FGFR3 epidermal nevus syndrome , 15, 40, 78–80 compound , 22 FGFR2 mutation , 91 loss of , 14, 22, 137 FGFR3 mutation , 78, 81 Homologous recombination , 22 Fibrofolliculoma, 123–124 Homozygous cell clone , 16 Fibroma, perifollicular. See Fibrofolliculoma Hornstein-Knickenberg syndrome , 19, 20, 123–124 Fibrous hamartoma of infancy , 21, 148 HRAS mutation , 71, 72, 113, 145, 146 Fixed drug eruption , 26, 208, 210 Hypermelanosis Focal dermal hypoplasia linear and whorled nevoid (see Pigmentary nevi) enamel defects, linear , 53 mosaic , 14, 56 linear skin lesions , 50, 184, 203 phylloid (see Pigmentary nevi) lyonization , 53, 54, 184–185 Hypertrichosis, nevoid , 189 occurrence in males , 24 Hypertrichosis, X-linked dominant , 191 striation of bones, of , 53, 185 Hypertrophy of the retinal pigment epithelium, Folliculin mutation. See Hornstein-Knickenberg congenital, 54, 55 syndrome Hypohidrosis , 187, 189 Folliculocystic and collagen hamartoma , 21, 148, 149 Hypomelanosis of Ito. See Pigmentary mosaicism of Four-mutation model , 14, 221 the Ito type Fumarate hydratase gene. See Leiomyomatosis Hypomorphic alleles , 39–41 Functional X-chromosome mosaicism , 28–30, 183–191 Hystrix-like epidermal nevus. See NEVADA syndrome

G I Galli-Galli disease , 141 Ichthyosis follicularis, atrichia, photophobia (IFAP) Gametic half-chromatid mutation , 14, 49, 52 syndrome, 31, 188–189 Ganglioneuromatosis , 20 Ichthyosis in confetti , 177, 178 Gene conversion , 24 Ichthyosis variegata. See Ichthyosis in confetti 226 Index

Ichthyosis vulgaris , 17 Loss of heterozygosity (LOH) , 14, 21, 137, 221 Ichthyosis, X-linked recessive , 30 Lowe syndrome , 54 Immunodefi cincy, severe combined , 24 Lupus erythematosus , 24, 30, 39–40, 49, 50, 184 discoid , 26, 201–203 I n fl ammatory linear verrucous epidermal nevus (ILVEN). profundus , 26, 202–203 See Epidermal nevi subacute cutaneous , 26, 202–204 I n fl ammatory skin disorders, acquired , 195, 197–210 systemic , 26, 203 Isolated segmental manifestaion , 25, 208 Lyon effect , 28, 30, 50 Ito type, pigmentary mosaicism of , 15, 74–75 Lyon hypothesis , 49 Lyonization , 29, 31, 53, 54, 183, 187, 189, 191

J Jadassohn nevus sebaceus syndrome , 20 M Jugendstil , 57 Macrocephaly-capillary malformation syndrome. Juvenile elastoma , 20, 99, 149 See Megalencephaly-livedo reticularis congenita syndrome Macular dystrophy of Mendes da Costa , 30 K Macular nevus spilus , 56, 73, 117 Keratinization disorders , 139–146 Maffucci syndrome , 191–192 Keratinocytic nevi. See Epidermal nevi Malignant melanoma , 221 Keratinocytic nevus syndromes. See Epidermal nevus MARCM. See Mosaic analysis with a repressible cell syndromes marker (MARCM) Keratosis follicularis spinulosa decalvans , 31 Marfan syndrome , 20, 151–152 Kerinokeratosis papulosa , 84, 85 Mastocytosis , 138 KID syndrome , 19, 89–90, 142 MBPTS2 gene , 31 Kindler syndrome , 24, 177, 178, 180 McCune-Albright syndrome , 15, 46, 53, 75, 76 KRAS mutation , 78, 85, 86 Median nevus fl ammeus. See Non-nevi Megalencephaly-livedo reticularis congenita syndrome , 15, 95–96 L Melanocytic nevi Large patches without midline separation , 57, 58 atypical melanocytic nevus , 70–71 Lateralization pattern , 57–58, 84 cellular blue nevus , 72 Lateralized exanthem of childhood , 26, 208–210 large congenital melanocytic nevus , 71, 72 Legius syndrome , 19, 134 linear lentiginous nevus , 73 Leiomyomatosis , 19, 20, 134–135 macular nevus spilus , 56, 73 LEMD3 mutation , 150 neoplastic proliferation , 70, 96 Lethal cytogenetic abnormalities , 14 nevus cesius , 73–74 Lethal mutations , 15, 39–41, 64, 78, 92, 95, 100, 192 papular nevus spilus , 72–73 Leukocyte adherence defi ciency , 24 segmental dermal melanocytosis , 73–74 Lhermitte-Duclos variant. See PTEN hamartoma small melanocytic nevus , 70, 71 syndrome Spitz nevus , 71, 72 , 195, 196 Melanoma, malignant , 221 Lichen nitidus , 26, 200, 202 Melorheostosis , 116, 149, 150 Lichen planopilaris , 26, 200–201 Mendelian inheritance , 6, 22 , 26, 51, 200 Mendes da Costa, macular dystrophy , 30 Lichen striatus , 194–195 MEND syndrome , 39–40 Linear and whorled nevoid hypermelanosis , 26, 75, 77 Menkes syndrome , 188 Linear atrophoderma , 50, 192 Merle patterning , 26, 274 follicular , 185–186, 192 Mesotropic facial pattern , 64–65 in Happle-Tinschert syndrome , 192–193 Mesotropic port-wine patch/stain , of Moulin , 196–197 64–65, 95 Linear collagen nevus , 98–99 Metameres , 48 Linear Cowden nevus. See Linear PTEN nevus Methylation , 26 Linear epidermolytic comedones. See Epidermal nevi Microphthalmia, dermal aplasia, and sclerocornea Linear Proteus nevus. See Epidermal nevi (MIDAS) syndrome , 186 Linear PTEN nevus. See Epidermal nevi Microphthalmia with linear skin defects (MLS) LINE-1 retrotransposons , 28 syndrome , 186 Lines of Blaschko. See Blaschko’s lines Minor’s sweat testing , 187 Lipoma , 128, 134, 193, 221 Mitotic crossing-over/recombination , 22, 153, 179 Lipomatosis , 20, 128, 137 Mixed cases , 25, 200, 206 Livedo reticularis congenita , 95 Mixed sclerosing bone dystrophy , 150 Index 227

Mongolian spot, aberrant. See Nevus, cesius unius lateris , 192 Monoallelic expression , 26, 50 vascularis mixtus , 24, 97, 109–111 Morphea , 26, 206–207 Nevus fl ammeus. See Sturge-Weber-Klippel-Trenaunay Mosaic analysis with a repressible cell marker syndrome (MARCM), 10, 23 Nevus lines , 45, 47, 49–51 Mosaic hypermelanosis , 56 Nonallelic didymosis. See Didymosis Mosaic , 64 Nonhomologous crossing-over , 22 Multihit mechanisms , 14 Nonlethal autosomal mutations , 15–18 Mutations Non-nevi , 191–193 back , 24, 178 basal cell nevus , 193 lethal , 14, 15, 39–41, 64, 78, 92, 95, 100, 192 blue rubber bleb angiomatosis , 127–128, 194 point , 15, 24 Happle-Tinschert syndrome , 192–194 postzygotic , 14, 17, 23, 24, 49, 71, 72, 78, 96, 135 hemihyperplasia-multiple lipomata syndrome , 193 reverse , 24 Maffucci syndrome , 191–192 second-site , 24 salmon patch , 193, 194 suppressor , 24 syringocystadenoma papilliferum , 191, 192 white sponge hyperplasia of the mucosa , 193, 194 NSDHL mutation , 24, 39–41 N Natural gene therapy , 24, 178 NEMO mutation , 28, 39, 184 O Neoplastic skin lesions , 221 Omenn syndrome , 24 Nervous system , 47 Oral-facial-digital syndrome, 186–187 Neurofi broma, plexiform , 20, 132, 133 Organoid epidermal nevi. See Epidermal nevi Neurofi bromatosis 2 (NF2) , 19, 133 Osler-Rendu-Weber disease , 92, 156 Neurofi bromatosis 1 (NF1), segmental Osteoma cutis, platelike , 20, 153, 155 genetic transmission, issue of , 132–133 Osteomatosis cutis, hereditary , 19, 20, 152–155 gonadal mosaicism , 133 Osteopathia striata with cranial sclerosis , 53 type 1 mosaicism , 133, 135 type 2 mosaicism , 19, 20, 135–136 NEVADA syndrome , 15, 79, 83 P Nevi Pachyonychia congenita , 143 capillary nevi (see Capillary nevi) Pallister-Killian pattern. See Pallister-Killian syndrome connective tissue nevi , 98–99 Pallister-Killian syndrome , 63–64 epidermal (see Epidermal nevi) Papular nevus spilus , 15, 72, 73 fatty tissue nevi , 99–100 Paradominant inheritance , 18 pigmentary (see Pigmentary nevi) Partington, reticulate pigmentary disorder of , 189 vascular (see Vascular nevi) Pemphigus vulgaris , 26, 205 Nevoid skin disorders , 183–211 Phacomatosis cesioanemica , 118 Nevus Phacomatosis cesiofl ammea , 118 achromicus , 74 Phacomatosis cesiomarmorata , 118 anemicus , 22, 24, 97 Phacomatosis melanorosea , 117 cesius , 73, 74, 118 Phacomatosis pigmentokeratotica , 15, 23, 73, 87, 115–116 comedonicus (see Epidermal nevi) Phacomatosis pigmentovascularis , 23, 116–118 corniculatus (see Epidermal nevi) Phacomatosis spilorosea , 117 depigmentosus , 74 Phylloid hypermelanosis , 46, 77 epidermicus verrucosus (see NEVADA syndrome) Phylloid hypomelanosis , 57, 76–77 fl ammeus , 24, 92–93 Phylloid pattern , 45, 57, 77 fuscocoeruleus/aberrant Mongolian Spot (see Nevus, Pigmentary mosaicism cesius) epigenetic , 26 giant melanocytic , 46, 57 familial , 26 lentiginosus linearis , 73 Ito type , 14 lipomatosus superfi cialis , 99 Pigmentary mosaicism of the Ito type , 15, 74–75 marginatus (see Epidermal nevi) Pigmentary nevi, other than melanocytic nevi , psiloliparus , 99–100 70–77 roseus , 93–94, 117 hypermelanosis, checkerboard pattern , 76 sebaceus (see Epidermal nevi) hypomelanosis, checkerboard pattern , 75–76 simplex (see Non-nevi) linear hypermelanosis , 75 spilus, macular type , 56, 72–73 linear hypomelanosis , 74–75 spilus, papular type , 72 phylloid hypermelanosis , 77 trichilemmocysticus (see Epidermal nevi) phylloid hypomelanosis , 76–77 228 Index

PIK3CA mutation , 78 Servelle-Martorell type. See Venous nevi Pilomatricoma , 123 Severe combined immunodefi ciency , 24 Plexiform neurofi broma , 20, 130, 132, 133 Shagreen patch , 147 Point mutation, reverse , 24 Shulman syndrome , 206, 207 Polygenic skin disorders , 197–211 SLE. See Lupus erythematosus Polymicrogyria. See Macrocephaly-livedo reticularis SMARCB1 mutation. See Schwannomatosis congenita syndrome SOLAMEN syndrome. See PTEN hamartoma PORCN mutation , 184 syndrome Porokeratosis Somatic mosaicism , 17 disseminated superfi cial actinic , 17, 19, 20, 85, 143–144 Spiradenoma/spiradenomatosis , 19, 20, 125 linear , 20 Spitz nevus , 71–72 palmaris, plantaris et disseminata , 19, 145 Squamous cell carcinoma , 221 plaque-type of Mibelli , 19, 20, 126, 144–145 Striation of bones. See Focal dermal hypoplasia unclassifi able , 145 Sturge-Weber-Klippel-Trenaunay syndrome , 92 Porokeratotic eccrine nevus , 86, 89–90 absence of trigeminal arrangement , 92 Porokeratotic eccrine ostial and dermal duct nevus Cobb syndrome , 93 (PEODDN). See Porokeratotic eccrine nevus GNAQ mutation , 113 Postzygotic crossing-over , 24 nevus fl ammeus , 92–93 Postzygotic mutation , 13, 14, 24, 49, 135, 197 Sturge-Weber syndrome , 15 Progressive osseous heteroplasia , 17, 20, 153–154 Subacute cutaneous lupus erythematosus. See Lupus Proteus-like syndrome, 20 erythematosus Proteus nevus, linear. See Epidermal nevi Sublethal chromosome aberration , 14 Proteus syndrome , 15, 79–82, 136, 137 Superimposed mosaic/segmental manifestation , 18, Prurigo, chronic , 26, 199 24–26, 206 Pseudodidymosis. See Binary genodermatoses Syringocystadenoma papilliferum , 191, 192 Psoriasis, linear , 51 Syringoma , 19, 125 Psoriasis pustular/pustulosa , 26, 198 Syringomatosis , 21 Psoriasis vulgaris , 26, 197–198 Systemic lupus erythematosus. See Lupus erythematosus PTCH1 mutation. See Gorlin syndrome PTEN hamartoma syndrome , 19, 20, 79, 81, 136–138 PTEN mutation , 138 T Telangiectatic nevus , 22 Transgenic animals , 51 R Transheterozygosity , 22 Radial pattern of retina , 54 Transient bullous dermolysis, newborn , 158–159 RASA1 mutation , 94 Transient superfi cial acantholysis , 159–160 RASopathy , 85 Trichodiscoma , 123 Reticulate pigmentary disorder of Partington , 189 Trichoepithelioma , 19, 122 Retrotransposons , 26, 28 Trichogephyrosis , 188, 189 Retroviral material , 26 Trisomy 18, mosaicism , 14 Revertant mosaicism , 16, 23–24, 177–180 Trisomy 13q, mosaicism , 14, 76 Rhodoid nevus , 94–95 Tuberous sclerosis (TS) , 19, 21, 146–149 Rhodoid nevus syndrome , 156–158 Twin spot generator , 23 Ruggieri-Happle syndrome , 58, 59, 111 Twin spotting (didymosis) Ruggieri-Leech syndrome , 109–111 Drosophila wing spot test , 8 Mosaic analysis with a repressible cell marker (MARCM), 10 S in plants , 6–7 Salmon patch. See Non-nevi Two-hit mechanism/model , 14, 19, 221 Sash-like pattern , 45, 48, 58–59 Type 2 segmental manifestation , 16–18, 28 SASKIA nevus. See Epidermal nevi Schauder syndrome , 88, 89 Schimmelpenning syndrome , 15, 85, 86, 115 U Schwannomatosis , 133–134 Unisex tariffs of life insurances , 30 Seborrheic keratoses. See Epidermal nevi Unna’s nevus. See Non-nevi Second-site mutation , 24 Segmentally arranged seborrheic keratoses with impending atypia (SASKIA) nevus , 81 V Segmental manifestation of polygenic disorders Van Lohuizen syndrome , 15, 95 isolated , 24, 25 Variegated pattern , 26 superimposed , 24–26, 197–211 Vascular disorders , 92, 97, 156–158 Index 229

Vascular nevi , 92–98 X inactivation Venous malformations, hereditary cutaneomucosal. and Blaschko’s lines , 50 See Venous nevi escape from , 30 Venous nevi , 97–98 X-inactivation center , 28 Viable yellow agouti mutation , 26 XXY constitution , 30 , 26, 209–210 Voigt’s lines , 48 Y Y chromosome , 29 W , 26 Waxy keratoses of childhood. See Kerinokeratosis papulosa Z White sponge nevus of the mucosa. See Non-nevi Zebra , 50 Wiskott-Aldrich syndrome , 24 Zebra fi sh , 50 Zimmermann-Laband syndrome , 154–155 Zonana, ectodermal dysplasia of , 27, 40, 184 X Zoniform leiomyoma , 20 Xanthogranuloma, juvenile , 196 Zosteriform epidermal nevus , 20 X-chromosome mosaicism, functional, 24, 28–30, 183–191 Zosteriform pattern , 49, 57